G24E (p.Gly24Glu) variant of MET (P08581)
G24E (p.Gly24Glu) in MET (P08581) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Renal cell carcinoma; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G24E (p.Gly24Glu) variant details
- p.Gly24Glu
- rs180985111
- ClinGen CA160439
- ClinVar RCV000121347
- ClinVar RCV000148614
- Conflicting interpretations
- Renal cell carcinoma; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.17
- MetaLR 0.28
- MetaSVM -0.59
- CADD 20.50
- PolyPhen-2 0.02
- SIFT 0.20
- ClinVar: Conflicting classifications of pathogenicity (Renal cell carcinoma; Hereditary cancer-predisposing syndrome; n)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Canadian guideline on genetic screening for hereditary renal cell cancers. (PMID 24319509)